1/36. Epidermal nevus syndrome with development of a mandibular ameloblastoma.Epidermal nevus syndrome (ENS) is a hamartoneoplastic syndrome characterized by the association of epidermal nevi with abnormalities in other organ systems. We report a 32-year-old woman with ENS that, in addition to cutaneous manifestations, showed red plaques on the maxillary and mandibular labial alveolar mucosa and a papillomatous lesion of the midline posterior hard palate. Radiographic examination of the jaws was noncontributory. Approximately 5 years later, a follicular ameloblastoma developed in the mandible. The tumor showed duct-like cystic spaces, continuity with the overlying epithelium, and globular myxomatous areas in the connective tissue. The palatal lesion was diagnosed as papilloma, whereas the maxillary plaques showed nonspecific mucositis. The association of ameloblastoma with ENS is discussed. This is the second case of ENS associated with ameloblastoma reported in the medical literature.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
2/36. A new technique to resurface wounds with composite biocompatible epidermal graft and artificial skin.BACKGROUND: The incorporation of cultured epidermal autograft on the neodermis of artificial skin (Integra, Integra LifeSciences, Plainsboro, NJ) has been met with some difficulties. A new engraftment technique to resurface the wounds with Integra and composite biocompatible epidermal graft (CBEG) has been successfully applied on three patients for elective reconstructive procedures. methods: A small skin biopsy was taken from the normal edge of the lesion for keratinocytes and dermal fibroblast cultures 2 weeks before surgery. When sufficient cells were grown, the patient was admitted for the excision of the lesions or scars. The wounds of the patients, ranging from 125 to 250 cm2, were covered with Integra. When the neodermis of the Integra was fully vascularized, the silicone membrane of the Integra was removed and replaced with the CBEG, which consisted of autologous keratinocytes cultivated on a hyaluronate-derived membrane (Laserskin; Fidia Advanced biopolymers, Abano Terme, italy)) using human dermal fibroblasts as a feeder layer. RESULTS: Clinically, there was good initial "take" of the CBEGs in these three patients, ranging from 50% to 100%. biopsy specimens of the grafted wounds were taken 1 to 3 weeks after the application of the CBEGs. Epithelialization was noted in all patients. CONCLUSION: This engraftment technique has several advantages. The CBEG is much easier to handle than the conventional cultured epidermal autograft. It eliminates the invasive second procedure for skin harvesting, with resulting pain and scarring. The application of the CBEG can be easily performed at the bedside.- - - - - - - - - - ranking = 0.1828574149411keywords = membrane (Clic here for more details about this article) |
3/36. A novel mutation in the keratin 4 gene causing white sponge naevus.BACKGROUND: White sponge naevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia, most commonly the buccal mucosa. Clinically, WSN manifests as thickened spongy mucosa with a white opalescent tint in the mouth and may be confused with other disorders that cause white lesions on oral mucosa. Recent studies have identified pathogenic mutations in KRT4 and KRT13, the genes encoding mucosa-specific keratins, in WSN. OBJECTIVES: To search for possible mutations in KRT4 and KRT13. methods: We report a case of WSN in a young man who presented with diffuse irregular whitish plaques involving the buccal and gingival mucosae and the tongue. Results Pathologically, the affected mucosa showed epithelial thickening, parakeratosis and extensive vacuolization of the suprabasal keratinocytes. mutation analysis revealed a heterozygous missense mutation 1345G-->A in KRT4, predicting an amino acid change, E449K, in the 2B domain of the K4 polypeptide. CONCLUSIONS: We report the first mutation analysis of a Taiwanese patient with WSN. Potentially this novel mutation could disrupt the stability of keratin filaments and result in WSN.- - - - - - - - - - ranking = 6keywords = mucosa (Clic here for more details about this article) |
4/36. Human papillomavirus type 16 dna in oral white sponge nevus.White sponge nevus (WSN) is a benign hereditary lesion of the mucous membranes. dna extracted from a biopsy specimen of oral WSN was assayed for the presence of dna sequences homologous to human papillomavirus (HPV) types 1, 2, 4, 6, 11, 13, 16, and 18 by Southern blot hybridization. Only HPV-16 homologous dna sequences were detected at a copy number of approximately 200 to 250 genome copies per diploid cell. The viral dna sequences did not appear to be integrated into the host cell chromosome. The finding of HPV-16 in an inherited lesion such as WSN indicates that caution must be exercised in ascribing a causal association in relation to the demonstration of HPV in other mucosal disorders.- - - - - - - - - - ranking = 1.0914287074706keywords = mucosa, membrane (Clic here for more details about this article) |
5/36. Reconstruction of the ocular surface by transplantation of a serum-free derived cultivated conjunctival epithelial equivalent.PURPOSE: The purpose of this study was to investigate the use of a serum-free derived cultivated conjunctival epithelial sheet for ocular surface transplantation and reconstruction. methods: Seven subjects with various ocular surface disorders were selected for the procedure: one patient had an extensive conjunctival nevus, three patients had pterygium, two patients had persistent leaking trabeculectomy blebs, and one patient had bilateral superior limbic keratoconjunctivitis. Conjunctival epithelial cells were harvested from the forniceal conjunctiva of patients 2 weeks before the definitive surgery. Cultivation of conjunctival epithelial cells on human amniotic membrane (HAM) was carried out under serum-free conditions. At the time of transplantation, the area of diseased conjunctiva was excised and the cultured conjunctival epithelium-HAM composite was transplanted onto the surgical defect. patients were followed up with serial slit-lamp examinations, fluorescein staining, and photographic documentation. RESULTS: A confluent stratified conjunctival epithelial sheet was formed on the HAM within 12 to 14 days. Transplanted grafts remained well-epithelialized after surgery. A successful outcome, defined as resolution of the disease, maintenance of conjunctival epithelialization, maintenance of graft integrity, and absence of significant complications, was obtained in all seven patients. A good functional and cosmetic result was achieved in all eyes. The mean follow-up period was 11.6 months (range, 6-18 months). CONCLUSIONS: transplantation of a serum-free derived autologous cultivated conjunctival epithelial sheet on HAM was successfully performed in seven patients with ocular surface disorders. This may provide a novel method for conjunctival replacement in conditions where the normal conjunctiva is damaged or deficient.- - - - - - - - - - ranking = 0.09142870747055keywords = membrane (Clic here for more details about this article) |
6/36. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic. We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis. A genome-wide linkage analysis in these families, followed by the identification of a microdeletion in an unrelated individual with these diseases, allowed us to map the gene that is mutated in osteopoikilosis. All the affected individuals that we investigated were heterozygous with respect to a loss-of-function mutation in LEMD3 (also called MAN1), which encodes an inner nuclear membrane protein. A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis. XMAN1, the xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFbeta receptor-activated Smads and antagonized both signaling pathways in human cells.- - - - - - - - - - ranking = 0.09142870747055keywords = membrane (Clic here for more details about this article) |
7/36. nevus lipomatosus (pedunculated lipofibroma) of the eyelid.nevus lipomatosus is a rare connective tissue nevus characterized by mature adipose tissue within the dermis. An 11-year-old boy presented with an eyelid papule that had been observed expectantly since birth and had exhibited gradual and progressive enlargement. Excisional biopsy revealed a polypoid mass formed of mature adipocytes within the dermis and subconjunctival mucosa consistent with nevus lipomatosus. This is the first case of nevus lipomatous to our knowledge to be reported on the eyelid. nevus lipomatous or pedunculated lipofibroma can arise on the eyelid and should be considered in the differential diagnosis of eyelid tumors.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
8/36. Spinal arachnoid cyst containing nevus cells in a patient with a large congenital melanocytic nevus: case report.OBJECTIVE AND IMPORTANCE: Spinal arachnoid cysts are rare, and their cause and pathogenesis remain controversial. We experienced a rare case with a large congenital melanocytic nevus in which a spinal arachnoid cyst contained nevus cells, suggesting the congenital nature of a spinal arachnoid cyst.CLINICAL PRESENTATION: A 37-year-old Japanese man had been born with a large melanocytic nevus on his back. He experienced intermittent pain radiating to both thighs and to the lower back and waist. A magnetic resonance imaging study disclosed the presence of a posterior intradural extramedullary arachnoid cyst extending from T10 through T12. His spinal cord was displaced anteriorly and flattened.INTERVENTION: An osteoplastic laminoplasty was performed, and the arachnoid cyst was totally removed. The cyst membrane exhibited many foci of brown deposits, and histological examination disclosed the presence of melanin-containing cells in the cyst membrane. Morphologically and immunohistochemically, the melanin-containing cells in the cyst membrane were similar to nevus cells in the dermis.CONCLUSION: The histological findings of our case suggest that the patient's spinal arachnoid cyst was formed at the same stage of development as the melanocytic nevus.- - - - - - - - - - ranking = 0.27428612241165keywords = membrane (Clic here for more details about this article) |
9/36. Intraoral lesions associated with sebaceous nevus syndrome.The sebaceous nevus syndrome describes the rare association of a sebaceous nevus with systemic features such as mental retardation, seizures and colobomas (among others). It is thought to be a cutaneous mosaic inherited as a paradominant trait. Three cases are provided illustrating the intraoral manifestations of the syndrome. The first histological comparison of contiguous mucosal and cutaneous lesions is provided. We also describe the possible association of SFM syndrome with a benign fibrous histiocytic lesion of the mandible. This and other mandibular tumors associated with the sebaceous nevus syndrome may have significant implications for patients. awareness of the potential presence or development of significant intraoral lesions in association with the sebaceous nevus syndrome is important for those involved in the care of patients with this syndrome.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
10/36. White sponge naevus with minimal clinical and histological changes: report of three cases.White sponge naevus (WSN) is a rare autosomal dominant disorder that predominantly affects non-cornified stratified squamous epithelia: oral mucosa, oesophagus, anogenital area. It has been shown to be related to keratin defects, because of mutations in the genes encoding mucosal-specific keratins K4 and K13. We illustrate three cases diagnosed as WSN, following the clinical and histological criteria, with unusual appearance. They presented with minimal clinical and histological changes that could be misleading in the diagnosis. The patients showed diffuse irregular plaques with a range of presentations from white to rose coloured mucosae involving the entire oral cavity. In one case the lesion was also present in the vaginal area. The histological findings included epithelial thickening, parakeratosis and extensive vacuolization of the suprabasal keratinocytes, confirming WSN diagnosis. Clinical presentation and histopathology of WSN are discussed in relation to the differential diagnosis of other oral leukokeratoses.- - - - - - - - - - ranking = 3keywords = mucosa (Clic here for more details about this article) |
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